Association of the 1438G/A and 102T/C polymorphism of the 5-HT2A receptor gene with irritable bowel syndrome 5-HT2A gene polymorphism in irritable bowel syndrome.
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Alanine↗
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[Association between vitamin D receptor gene polymorphism and vitamin D deficiency rickets].
OBJECTIVE: To explore the genetic susceptibility of children to vitamin D deficiency rickets through studying the association between Vitamin D receptor (VDR) gene polymorphism and vitamin D deficiency rickets. METHODS: One hundred and fifty-nine children (100 boys and 59 girls, aged 0 to 2 years), with new-onset vitamin D deficiency rickets were enrolled. The patients sampled from a community of Jiamusi City, Heilongjiang Province. Seventy-eight healthy age-matched children (46 boys and 32 girls) were used as the controls. VDR gene polymorphism (cleaved by restriction endonuclease Fok I) was analyzed by polymerase chase reaction-restriction fragment length polymorphism (PCR-RFLP). The frequencies of the VDR genotype and allele were compared between the two groups. RESULTS: The frequencies of FF, Ff and ff genotypes were 37%, 51% and 12% in the Rickets group, and 18%, 55% and 27% in the Control group. A significant difference was found in the frequency distribution of the VDR genotype between the two groups (chi(2)(0.01(2))=9.210, chi(2)=13.3880, P < 0.01). In the Rickets group, f allele frequency was lower (37% vs 54%), while the F allele was more common than the Control group (63% vs 46%). CONCLUSIONS: There is an association between the VDR gene Fok I polymorphism and vitamin D deficiency rickets. The individuals with the F allele are more susceptible to vitamin D deficiency rickets.
Female↗
Evaluation of the aldosterone synthase (CYP11B2) gene polymorphism in patients with myocardial infarction.
Left ventricular remodeling after myocardial infarction involves activation of the renin-angiotensin-aldosterone system. Recently, the biallelic -344T/C polymorphism of the aldosterone synthase gene was associated with increased aldosterone levels, arterial hypertension, diastolic dysfunction, and left ventricular dilatation. We hypothesized that this polymorphism may also affect left ventricular geometry and function after myocardial infarction. By using a standardized questionnaire, as well as anthropometric and echocardiographic measurements, we thus studied 606 patients (533 men and 73 women) who had a myocardial infarction before the age of 60 years. The aldosterone synthase gene polymorphism was analyzed after polymerase chain reaction amplification and restriction enzyme digestion. The results demonstrated that there was no association of the aldosterone synthase gene polymorphism with echocardiographically determined left ventricular dimensions, wall thicknesses, or indexes of systolic or diastolic function. Furthermore, anthropometric data, including blood pressure levels, were balanced between the different genotypes. Finally, the allele frequency was similar for patients with myocardial infarction and a sample group from the normal population (n=1675). The data indicate that the allele status of the aldosterone synthase gene polymorphism is not useful for the identification of patients with myocardial infarction who have impaired left ventricular function or unfavorable remodeling.
Alleles↗
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.
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Cloning, Molecular↗
Candidate gene polymorphisms among North Indians and their association with schizophrenia in a case-control study.
Knowledge of candidate gene polymorphisms in a population is useful for a variety of gene-disease association studies, particularly for some complex traits. A number of candidate genes, a majority of them from the monoaminergic pathway in the brain, have been very popular in association studies with schizophrenia, a neuropsychiatric disorder. In this study diallelic/multiallelic polymorphisms in some dopaminergic, serotonergic and membrane-phospholipid-related genes have been evaluated in a control population recruited from North India. Association, if any, of these allelic variants with schizophrenia has been tested using a case-control approach. The case data have been taken from our published family-based association studies in schizophrenia. Of the eight genes tested in this study, association with schizophrenia was observed for only two gene polymorphisms, one in the promoter region of the serotonin 2A receptor gene and the other in the tryptophan hydroxylase gene. One new allele for the dopamine transporter gene (with eight repeats, 570-bp size), not reported in any population so far, has been identified in one individual in our sample. The data generated in this study, besides providing a normative background for various disease association studies, are a significant contribution to the population-specific genome database, a currently growing requirement.
Adult↗
[Estrogen receptor gene polymorphisms and HBV-induced liver cirrhosis].
OBJECTIVE: To investigate the relationship between estrogen receptor (ER) gene polymorphisms and HBV-induced cirrhosis. METHODS: Xba I and Pvu II polymorphisms of ER gene were analyzed in 98 patients with HBV-induced cirrhosis, 72 patients with chronic hepatitis B, and 84 healthy controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. RESULTS: The frequencies of Pp genotype and P allele of ER gene in patients with HBV-induced cirrhosis were higher than those in patients with chronic hepatitis B and controls, while the frequencies of pp genotype and p allele of ER gene in patients with HBV-induced cirrhosis were lower than those in patients with chronic hepatitis B and controls (P < 0.05). The risk of HBV-induced cirrhosis occurrence in carriers with Pp and pp genotype was 2.23 folds than that in carriers with pp genotype. There was no significant difference in frequencies of allele and genotype in Xba I polymorphism among the HBV-induced cirrhosis group, the chronic hepatitis B group, and the control group (P > 0.05). CONCLUSION: Pp genotype and P allele might be the susceptibility gene for HBV-induced cirrhosis while pp genotype and p allele might be the protective gene.
Adolescent↗
Effects of lymphotoxin-alpha gene and galectin-2 gene polymorphisms on inflammatory biomarkers, cellular adhesion molecules and risk of coronary heart disease.
The pro-inflammatory cytokine LTA (lymphotoxin-alpha) has multiple functions in regulating the immune system and may contribute to inflammatory processes leading to CHD (coronary heart disease). The aim of the present study was to investigate whether the common C804A (resulting in a Thr(26)-->Asp amino acid substitution) and A252G polymorphisms of the LTA gene and the C3279T polymorphism of the galectin-2 (LGALS2) gene, which affects LTA secretion, are associated with inflammatory parameters and cell adhesion molecules, and whether these polymorphisms are related to CHD in American women and men. We conducted a prospective nested case-control study within the Nurses' Health Study and Health Professionals Follow-Up Study. Among participants free of cardiovascular disease at baseline, 249 women and 266 men developed CHD during 8 and 6 years of follow-up respectively, and we matched controls 2:1 based on age and smoking. The LGALS2 gene variant was significantly associated with a decreased risk of CHD in women [odds ratio (95% confidence interval), 0.70 (0.50-0.97); P=0.03]. In addition, the LGALS2 polymorphism was directly associated with CRP (C-reactive protein) levels in cases from both studies (P<0.05). The LTA gene polymorphisms were directly associated with levels of sTNFRs (soluble tumour necrosis factor receptors) and VCAM-1 (vascular cell adhesion molecule-1) in both women and men with CHD (P<0.05). However, no overall effect was demonstrated between LTA gene polymorphisms and risk of CHD.
Age Factors↗
[Genes, polymorphism and function of the HLA gene region].
Great biological significance of the HLA complex and its impact on practical medicine impels researchers to study it, the result of which is an annual expansion of our knowledge on the system. The polymorphism of the HLA complex has increased--altogether 664 alleles are officially recognised. The genetic defect leading to the bare lymphocyte syndrome was elucidated, too--the mutations in genes coding transcription factors RFX5 and CIITA are responsible for. Also the role of HLA-DM antigens in the exogenous pathway of antigen presentation was elucidated. They are principle molecules which dislodge CLIP from the groove of HLA class II molecules leaving it free to accommodate more suitable immunogenic peptide. It was also discovered that HLA class I antigens are target structures for NK-cells. NK-cell receptors recognising them transduce negative signals switching their cytotoxic activity off. (Fig. 8, Tab. 1, Ref. 34.)
Alleles↗
Chemokines (RANTES and MCP-1) and chemokine-receptors (CCR2 and CCR5) gene polymorphisms in Alzheimer's and Parkinson's disease.
Parkinson's disease (PD) is a complex disorder characterized by the progressive degeneration of dopaminergic neurons in the midbrain. Late-onset Alzheimer's disease (LOAD) is the most common cause of dementia in the elderly, affecting about 5% of the population older than 65 years. Several works have demonstrated the involvement of inflammation in the pathogenesis of both, PD and LOAD. Genetic susceptibility to develop PD and LOAD has also been widely recognised. Thus, functional polymorphisms at the genes encoding inflammatory proteins could influence the overall risk of developing these neurodegenerative disorders. We examined whether DNA-polymorphisms at the genes encoding chemokines MCP-1 (-2518 A/G) and RANTES (-403 A/G), and chemokine receptors 5 (CCR5, Delta32) and 2 (CCR2,V64I), were associated with the risk and/or the clinical outcome of LOAD and PD. A total of 200 PD, 326 LOAD, and 370 healthy controls were genotyped for the four polymorphisms, and genotype frequencies statistically compared. We did not find significant differences in the frequencies of the different genotypes between both groups of patients and controls. We conclude that the four DNA polymorphisms, which have been associated with several immuno-modulated diseases, did not contribute to the risk of PD or LOAD.
Aged↗
[Clonal analysis of blood cells using X-linked HUMARA gene polymorphism].
OBJECTIVE: To explore the method for clonal analysis of blood cells. METHODS: Thirty female AML patients and 20 normal female subjects were analysed by the analysis of X-linked HUMARA gene polymorphism and methylation pattern. RESULTS: The heterozygote rate of HUMARA gene in Chinese women was 88% and the gene had a stable methylation pattern. Out of 20 control females, 17 were heterozygotes and among them 15 were polyclonal, 2 (11.8%) showed skewed X-inactivation. All heterozygote AML were clonal hematopoiesis. CONCLUSION: HUMARA gene polymorphism is a good marker for clonality analysis of blood cells.
Adult↗
Chemokine gene polymorphisms associate with gender in patients with uveitis.
Uveitis is an inflammatory condition of ocular tissue characterized by leukocyte infiltration, tissue damage, and decreased visual acuity. Chemokines have been implicated in the pathogenesis of uveitis. Polymorphisms in the genes encoding chemokines have been described as affecting chemokine production or function. We analyzed the frequency of single-nucleotide polymorphisms (SNPs) in genes encoding CCL2 (-2518 and -2076) and CCL5 (-403 and -28) in patients with Behçet's disease (BD), a systemic form of uveitis, and patients with retinal vasculitis (RV), an organ-specific form of disease. We report that there was no association between any SNP and disease. However, when segregated on the basis of gender the CCR5 -403 AA genotype was only found in male patients with BD. Similarly, CCL2 genotypes 1/2 were predominant in males, while genotype 4 was significantly associated with disease in female patients with BD. Differences in disease symptoms and severity between males and females have been described in BD and gender-specific genetic differences in chemokine gene function may be involved.
Behcet Syndrome↗
[Association between dopamine transporter gene polymorphism and Parkinson's disease].
OBJECTIVE: To detect the association between dopamine transporter gene polymorphism and Parkinson's disease (PD). METHODS: The authors analyzed the difference in the distribution of the variable number tandem repeat (VNTR ) polymorphism within the 3' untranslated region of the DAT gene between 85 normal controls and 128 PD patients that were further divided into the senile subgroup (aged >50 years at onset of PD ) and the early-onset subgroup (aged </=50 years). RESULTS: There were significant differences in genotypic and allelic distribution between the control group and the PD group. The senile PD was strongly associated with the 7-copy allele and weakly with the 10-copy allele, and the early onset PD was mainly associated with the 9-copy allele. CONCLUSION: The findings not only support an association between DAT gene and PD but also suggest the relationship of the 3'VNTR polymorphism of DAT gene with the age at the onset of PD.
Adolescent↗
Gene polymorphisms predicting high plasma levels of coagulation and fibrinolysis proteins. A study in centenarians.
Gene polymorphisms associated with the plasma levels of fibrinogen, factor VII, and plasminogen activator inhibitor 1 (PAI-1)-hemostasis proteins that help to predict the risk of atherothrombotic disease-were compared in 124 healthy individuals > or = 100 years old and 130 young, healthy individuals to identify genetic influences on extreme longevity. We investigated the restriction fragment length polymorphism G/A-455 located in the promoter of the beta-fibrinogen gene, the guanine insertion/deletion polymorphism 4G/5G in the promoter of the PAI-1 gene, and the R353Q substitution polymorphism in exon 8 of the factor VII gene. Alleles and genotypes associated with elevated plasma levels of fibrinogen and factor VII were found with similar frequencies in centenarians and in the comparison group. However, in centenarians there was a significantly higher frequency of the 4G allele and of the homozygous 4G4G genotype associated with high PAI-1 levels. Since high PAI-1 is considered a predictor of recurrent myocardial infarction in young men, it is intriguing that the corresponding genetic marker is more frequent in centenarians who have escaped major age-related atherothrombotic disease and reached the extreme limits of human life. Homozygosity for the 4G allele, despite its association with impaired fibrinolysis, is compatible with successful aging.
Aged↗
Methylenetetrahydrofolate reductase and angiotensin converting enzyme gene polymorphisms in two genetically and diagnostically distinct cohort of Alzheimer patients.
The role of methylenetetrahydrofolate reductase (MTHFR) and angiotensin converting enzyme (ACE) gene polymorphisms as risk factors for the occurrence of Alzheimer's disease (AD) is still controversial. In this study, we investigated the common MTHFR C677-->T and ACE insertion/deletion (I/D) gene polymorphisms as risk factors for AD in two genetically and diagnostically distinct cohort of Alzheimer's patients. We analyzed a neuropathologically confirmed American cohort of 124 AD patients and 97 elderly controls, and a clinically diagnosed Italian cohort of 126 probable AD cases, 106 elderly controls, and a community-based sample of 1232 subjects aged under 65 years. No difference was found in polymorphism distribution between cases and controls in both study cohorts. We also tested a possible association between the polymorphisms investigated. No interaction was found between the MTHFR and ACE alleles. Moreover, no association was found for the ACE and MTHFR polymorphisms with age at onset, disease duration and MMSE score at observation. Thus, in our study, MTHFR C677-->T and ACE I/D polymorphisms do not appear to confer an added risk for AD.
Age of Onset↗
Prospective evaluation of the effect of an angiotensin I converting enzyme gene polymorphism on the long term risk of major adverse cardiac events after percutaneous coronary intervention.
OBJECTIVE: To evaluate prospectively the influence of an angiotensin I converting enzyme (ACE) gene polymorphism on long term clinical outcome of patients with established coronary artery disease treated by percutaneous coronary intervention. DESIGN AND SETTING: Prospective observational study in a university hospital. PATIENTS: Consecutive series of 1010 patients with symptomatic coronary artery disease who underwent successful coronary stent placement from November 1996 to April 1998. MAIN OUTCOME MEASURES: Long term clinical outcome was obtained and the rates of major adverse cardiac events (death, non-fatal acute myocardial infarction, unstable angina, and revascularisation) were compared according to the insertion/deletion (I/D) polymorphism of the ACE gene. RESULTS: Of the 1010 patients 29% had the DD genotype, 51% had the ID genotype, and 20% had the II genotype. All baseline clinical angiographic and procedural characteristics were identical in the three groups of patients. Event-free survival during the follow up period (median two years) was identical in patients with the II genotype compared to those with one or two D alleles. The predictors of long term survival were age, diabetes, ejection fraction, and extension of coronary artery disease. ACE genotype had no influence on the long term survival. Additional analyses assuming dominant and recessive effects of the D allele also failed to find any association; nor did the examination of low risk subgroups. CONCLUSIONS: The ACE I/D polymorphism does not influence the long term prognosis of patients with coronary disease treated by percutaneous coronary intervention, and screening patients for this gene polymorphism is not useful for secondary prevention strategies.
Aged↗
The impact of beta-adrenoreceptor gene polymorphisms on survival in patients with congestive heart failure.
OBJECTIVE: Discordant results have been published regarding a possible association between beta-adrenoreceptor (betaAR) gene polymorphisms and survival in patients with congestive heart failure (CHF). The aim of the study was to analyze the impact of five functional betaAR gene polymorphisms in patients with stable CHF. METHODS: We prospectively studied 444 consecutive patients with CHF related to left ventricular systolic dysfunction. The beta1ARSer49Gly, beta1ARGly389Arg, beta2AR Arg16Gly, beta2AR Gln27Glu and beta2AR Thr164Ile polymorphisms were determined. Patients underwent echocardiography, radionuclide angiography and a cardiopulmonary exercise test. RESULTS: Mean age was 56.6+/-11.9 years old, left ventricular ejection fraction (LVEF) was 32+/-12%, and peak VO2 was 15.5+/-4.9 ml/min/kg or 63+/-18% of maximal predicted VO2. Most of the patients (95%) were receiving angiotensin converting enzyme inhibitors and 91% beta-blockers. There was no statistically significant differences between baseline characteristics among beta1AR and beta2AR genotypes. During a median follow-up period of 1232 days, there were 110 cardiac-related deaths and five urgent transplantations. Independent predictors of survival were percent (%) of maximal predicted VO2 (p<0.0001), age (p<0.0001), LVEF (p=0.004), creatinine (p=0.02) and atrial fibrillation (p=0.04). No betaAR polymorphisms were associated with survival. However, patients with the combined beta2ARGly16Gly/beta2ARGln27Gln genotype, who express receptors highly sensitive to down-regulation, had a significantly lower survival rate than patients with other genotypes but only in univariate analysis. CONCLUSIONS: In this prospective study, we found no association between five functional betaAR polymorphisms and survival in patients with stable CHF. However, we demonstrated, only in univariate analysis, a possible association between the combined beta2ARGly16Gly/beta2ARGln27Gln genotype and survival.
Aged↗
Leptin receptor gene polymorphisms in severely pre-eclamptic women.
Variants of the leptin receptor gene (LEPR) may modulate the effect of elevated serum leptin levels in pre-eclampsia. The aim of our study was to evaluate the LEPR gene polymorphisms Lys109Arg (A109G) and Gln223Arg (A223G) in severely pre-eclamptic women. In a case-control study, we analyzed blood samples from 124 severely pre-eclamptic patients and 107 healthy control women by the polymerase chain reaction-restriction fragment length polymorphism method. The Pearson chi2 test was used to estimate odds ratios (OR) and 95% confidence intervals (CI). The association was adjusted for maternal age, pre-pregnancy body mass index and primiparity with logistic regression analysis. Pregnant women with the LEPR 223G allele (223A/G or 223G/G genotype) had almost double the risk of developing severe pre-eclampsia compared with patients with the 223A/A genotype (adjusted OR = 1.92, 95% CI: 1.07-3.41). Genotype variants of LEPR A109G alone did not affect the risk of severe pre-eclampsia. Haplotype estimation of A109G and A223G polymorphisms of the LEPR gene revealed that the G-A haplotype versus other pooled haplotypes was significantly less common in the pre-eclamptic group (p < 0.01), while the G-G haplotype versus others was overrepresented among severely pre-eclamptic patients (p < 0.01), compared with controls. In conclusion, our data indicate that LEPR A223G polymorphism may individually modify the risk of severe pre-eclampsia.
Adolescent↗
Gene polymorphisms of tissue plasminogen activator and plasminogen activator inhibitor-1 in patients with antiphospholipid antibodies.
OBJECTIVE: Impaired fibrinolytical outcomes may be one of the pathogenic factors for thrombotic events in patients with antiphospholipid antibodies (aPL). We investigated the consequences of the gene polymorphisms of tissue plasminogen activator (tPA) and plasminogen activator inhibitor-1 (PAI-1) in patients positive for aPL. METHODS: Seventy-seven Japanese and 82 British patients with aPL were examined for Alu-repeat insertion (I)/deletion (D) polymorphism of the tPA gene by polymerase chain reaction (PCR), and 4G/5G polymorphism in the PAI-1 promoter gene by site-directed mutagenesis-PCR and restriction fragment length polymorphism analysis. Correlations between these polymorphisms and clinical symptoms of antiphospholipid syndrome (APS) (arterial thrombosis, venous thrombosis, miscarriage) were analyzed. RESULTS: Significant differences in the allele frequencies of these genes did not exist between patients and controls. There was no significant correlation between these gene polymorphisms and clinical symptoms of APS in patients with aPL. CONCLUSION: Polymorphisms of the tPA or PAI-1 genes probably do not significantly influence the risk of anerial thrombosis, venous thrombosis, or pregnancy morbidity in patients with aPL.
Alleles↗